Articles tagged with Genetic Disorders
A team of researchers has discovered the gene responsible for Mucolipidosis IV, a rare genetic disorder affecting Ashkenazi Jews. The newly identified gene is linked to impaired fat breakdown, leading to accumulation of fats and sugars in lysosomes.
Researchers analyzed biologic, chemical, and genetic mechanisms to understand how SCA2 gene mutations cause damaged nerve cells. They found basic mechanisms in SCA2 cells differ from other genes associated with neurodegenerative diseases, suggesting new treatment possibilities for ataxia and related conditions.
Researchers find nearly 99% identity in X and Y chromosome regions, revealing a much smaller difference in mutation rates. This discovery suggests that genetic-disease-producing mutations must be explored for individual underlying causes, potentially changing the understanding of inherited diseases.
Researchers at UC Irvine have discovered a protein called calsenilin that can offset calcium imbalances in brain cells, which contribute to the development of early-onset familial Alzheimer's disease. This finding may lead to pharmaceutical therapies and preventive measures to halt the progression of this neurological disorder.
Researchers have identified three candidate regions on chromosomes 5q, 7q, and 19q that may contain genes influencing prostate cancer aggressiveness. These regions are associated with a higher Gleason score, indicating poor differentiation of tumor cells and increased risk of metastasis.
The World Alzheimer Congress will showcase recent discoveries on Alzheimer's disease, including the link between cell suicide and amyloid protein accumulation. Researchers also explored the role of apoE4 in driving brain damage and cognitive decline.
Researchers have pinpointed a genetic error in the VEGFR3 gene responsible for hereditary lymphedema, a condition affecting millions worldwide. This discovery enables genetic testing and provides a therapeutic target for inherited forms of lymphedema.
Researchers at Children's Hospital of Philadelphia uncover the connection between chromosome 22's chemical structure and genetic diseases like +der(22) syndrome. They found unstable DNA sequences that can lead to translocations, increasing the risk of disease.
Researchers have developed a preimplantation genetic diagnosis test for OTCD, allowing them to detect the abnormality in embryos. This breakthrough may enable PGD tests for other families in the future, providing relief to those affected by this rare and distressing disease.
Researchers discovered a new gene, neurofilament light, associated with Charcot-Marie-Tooth disease, which affects peripheral nerves and leads to progressive weakness. The defect is linked to demyelination, resulting in axonal loss and muscle denervation, also seen in other neurological disorders like Parkinson's and Alzheimer's diseases.
A survey of 95 individuals with a parent or sibling diagnosed with colon cancer found strong interest in genetic testing for susceptibility to the disease. However, many fail to follow recommended screening guidelines, highlighting the need for targeted educational efforts and interventions.
A study published in Alcoholism: Clinical & Experimental Research found that beta-endorphin levels are heritable and can predict an individual's risk of developing alcoholism. The research suggests that the hormone may be used as a biomarker to identify specific individuals at high genetic risk.
A study published in the New England Journal of Medicine highlights a rare genetic disorder Ehlers-Danlos syndrome Type IV, which increases the chance of early death. The disease affects between one in 100,000 and one in 500,000 people, with most deaths following rupture of large arteries.
Researchers at Ohio State University have developed a new technique to improve the accuracy of genetic testing for cancer and inherited diseases. The method separates human chromosomes and allows for independent analysis of each copy, detecting key mutations that were previously missed.
Researchers developed a new laboratory method to improve genetic diagnostic tests for colon cancer and inherited diseases. The technique detects defective genes that are masked when one copy is normal, increasing the accuracy of testing. This could lead to increased detection rates for many genetic diseases.
Hopkins researchers identified a dysfunction in HD that affects brain movement correction, leading to jerky movements. The study suggests that subtle jerkiness may appear before clinical symptoms, potentially providing an early diagnostic tool.
A research team at the Max Planck Institute of Neurobiology has discovered a new genetic cause for muscular dystrophy, uncovering a subtle disturbance in muscle fibre architecture. This breakthrough could improve diagnosis and therapeutic strategies for degenerative muscle disorders.
Researchers are conducting the largest study ever to identify the genetic susceptibility for osteoarthritis, a condition affecting over 21 million Americans. The three-year study will analyze DNA samples and health histories of 1,400 families with multiple siblings diagnosed with primary generalized osteoarthritis.
Researchers found that perforin, crucial for destroying abnormal cells, also plays a regulatory role in controlling the immune system's response to infections. This discovery may lead to new treatments and cures for diseases like lupus and multiple sclerosis.
A new transgenic mouse model develops damaging tau protein tangles as it ages, exhibiting clinical symptoms similar to tauopathies. The tau mouse is expected to aid in understanding the role of tau tangles in Alzheimer's disease and other neurodegenerative diseases.
A genetic abnormality in triglyceride regulation has been found to be common among Asian Indians, placing them at increased risk of heart disease. The study, which analyzed DNA from 100 people, suggests that this abnormality prevents blood fats from being broken down effectively.
Researchers at Wake Forest University School of Medicine have cloned the gene responsible for primary hyperoxaluria type II, a rare inherited form of kidney stone disease. The discovery may lead to better understanding and treatment of the disease, which can cause severe kidney failure and early death if left untreated.
Researchers at Howard Hughes Medical Institute uncover the first human disease linked to a defect in the MECP2 gene silencer mechanism. The discovery provides new insights into nervous system development and may lead to new treatments for Rett Syndrome, a neurodevelopmental disorder causing mental regression in young girls.
Researchers have identified 109 mariner elements in the human genome, which may contribute to genetic disorders such as Charcot-Marie-Tooth disease and hereditary neuropathy. The study's findings suggest that mariner transposons could be a hotspot for genetic change and error.
A team of international researchers has identified the gene responsible for congenital generalized lipodystrophy, a severe form of lipodystrophy characterized by selective loss of body fat from birth. The discovery is expected to provide insights into common obesity and metabolic disorders.
Gene-repair pioneer Eric Kmiec has established the University of Delaware's Laboratory of Gene Therapy, focusing on sickle-cell anemia, Huntington's Disease and food-crop advances. His technique repairs genetic mutations by stitching mutated sequences back together in their proper order.
Scientists have developed a new 'Knockout' mouse model that closely mimics the human kidney disorder IgA nephropathy, providing a promising lead for treatment. The researchers found that supplying deficient mice with uteroglobin prevented the disorder from occurring, mirroring human cases.
Researchers have found another aberrant gene on chromosome 2 that produces identical symptoms to the X-chromosome gene discovered earlier. The discovery improves genetic diagnosis prospects and may help in developing future therapies for hypohidrotic ectodermal dysplasia.
A novel gene, BRI, located on chromosome 13 has been identified as responsible for familial British dementia, a rare inherited disease that causes progressive dementia and spasticity. The discovery provides new clues to the abnormal changes in the brain that lead to dementia.
Researchers describe the first case of sporadic fatal insomnia (SFI), a neurologic disorder matching Shakespeare's witches' curse, caused by protein misfolding rather than a mutant gene. The condition's symptoms and neuropathology are identical to those of fatal familial insomnia.
Scientists have discovered a biochemical connection between presenilin and Notch, a protein controlling crucial aspects of developmental biology. This link may lead to new insights into the causes of Alzheimer's disease.
Scientists have confirmed that a protein complex, when defective, causes limb girdle muscular dystrophy. Researchers developed a cell culture system to mimic the defect and found that complete assembly of the sarcoglycan complex is dependent on simultaneous synthesis of all four sarcoglycans.
Researchers have localized a new gene, SCA10, associated with a rare form of inherited ataxia that also causes seizures in 20% of family members. The finding may shed light on the pathogenesis of epilepsy.
Recent genetic studies suggest modern humans originated in Africa, with extremely high genetic diversity across the continent. This diversity holds potential for understanding genetic diseases of Africans and African Americans, as well as finding treatments for diseases like malaria and HIV.
Researchers at Duke University Medical Center found that umbilical cord blood transplants can cure genetic diseases in children, with an overall survival rate of 68% and 80% success rate in patients under 2 years old. Early diagnosis and treatment are key to the successful outcomes.
A study reveals that mutant tau proteins disrupt microtubule assembly, leading to neuronal death in frontotemporal dementia and parkinsonism (FTDP-17). This discovery suggests a primary role for tau tangles in disease progression, pointing to potential therapeutic strategies involving tau-stabilizing drugs.
Researchers at Jefferson Medical College successfully used a gene repair technique to change the color of white albino mice cells to black, restoring melanin production and correcting a genetic mutation. The breakthrough holds promise as a potential treatment for some hereditary diseases by correcting the underlying genetic defect.
A study of 3359 twin pairs found that genes play a significant role in two behaviors contributing to compulsive gambling, with familial factors explaining 62% of the behavior. The researchers estimate that about half of these behaviors are genetically mediated, highlighting the importance of inherited factors in vulnerability to gambling.
A new form of inherited dwarfism, known as Dwarfism of Sindh, has been identified in a large Pakistani family. The condition is caused by a genetic mutation in the growth hormone-releasing hormone receptor (GHRH-R), leading to growth hormone deficiency and dwarfism.
Researchers identify three mutations in tau gene causing hereditary neurodegenerative diseases, providing new direction for exploring Alzheimer's disease. The findings suggest that abnormal tau protein accumulation kills brain cells, potentially leading to the development of treatments for related diseases.
Researchers have created a transgenic mouse model of Huntington's disease, exhibiting progressive behavioral and motor dysfunction. The mice developed similar neuropathological changes to those seen in human Huntington's disease, with symptoms worsening as the abnormal gene load increased.
Researchers found a genetic mutation in the CCR5 gene promoter that significantly delays HIV disease progression, affecting approximately 20% of infected individuals. The mutant promoter is 45% less active, leading to slower disease progression and increased resistance to HIV infection.
A study of 206 patients with Alzheimer's disease found that those with the lowest genetic risk had fathers who were significantly older at birth. This suggests a possible link between paternal age and increased susceptibility to the disease, which could be influenced by environmental factors affecting the father's DNA.
Scientists found that aspirin suppresses accumulation of genetic mutations causing hereditary colorectal cancer. Aspirin screens for cells with stable genetics, potentially preventing the disease. Researchers now plan a clinical trial to study higher doses of aspirin in preventing hereditary colon cancer.
Researchers at UT Southwestern Medical Center have shown that the transmission of mtDNA in yeast is organized and finite, rather than random. This discovery has implications for understanding genetic disorders caused by mtDNA mutations in humans, where the mother passes on a minority of her mtDNA copies to the fetus.
A 15-year study in over 100 families and 1,000 subjects provides the first reliable evidence of genetic susceptibility to schizophrenia. The study identified a stretch of DNA on chromosome 13 associated with schizophrenia susceptibility.
A new genetic mutation, APC I1307K, is found to modestly increase the risk of hereditary breast cancer in women of Ashkenazi Jewish descent. The mutation's effect is most significant in those who already carry BRCA mutations.
Researchers at Oregon Health Sciences University have identified a genetic cause for age-related macular degeneration, the leading cause of blindness in the US. A large family study revealed a specific gene location on chromosome 1q25-q31, offering hope for future treatments and preventative measures.
A study by Johns Hopkins School of Public Health found that one APOE variant can predict the age of onset for Alzheimer's disease in those predisposed. The research suggests that lifestyle choices may be protective against the disease.
Researchers at UCSF have identified nine genetic mutations in the P4501 alpha gene that cause hereditary vitamin D-dependent rickets, a condition affecting bone growth and development. The discovery enables prenatal diagnosis and genetic testing of adults to identify carriers of the mutated gene.
Researchers at Cornell University have discovered a genetic correlation between dog blindness and a similar human disease, potentially leading to new treatments for human eye disorders. The study identifies the canine version of the human RP17 gene defect, which could lead to gene therapy methods for both dogs and humans.
Researchers found a genetic link between bleomycin hydrolase and Alzheimer's disease, with individuals having two copies of the G allele being four times more likely to develop AD. This discovery offers new opportunities for early intervention and potential therapy targeting this enzyme.
Researchers at Duke University Medical Center have developed a groundbreaking treatment for Pompe disease, a rare genetic muscle-wasting disorder. The injectable enzyme therapy has shown promise in improving muscle strength and reducing glycogen buildup in muscles, offering new hope for children born with the fatal condition.
Researchers have created mouse models with induced mutant lipoproteins to study atherosclerosis, providing insights into the genes responsible for human diseases. The study reveals that breeding prone traits onto different strains has helped identify differences in susceptibility and resistance genes.
In 1997, scientists made significant discoveries in cloning, with the cloning of Dolly sparking debate on ethics and potential benefits. The year also saw major breakthroughs in Mars exploration, gamma ray bursts, and advances in genetic understanding, including the identification of clock genes and microbial genomes.
A genetic map of dogs was constructed using 150 microsatellite markers, revealing the organization of genes and traits on the canine genome. The study has significant implications for understanding human diseases such as cancer, epilepsy, and bleeding disorders.
Researchers have identified a novel human gene responsible for the systemic autoimmune disease APECED. The discovery provides valuable insights into the mechanisms of destructive autoimmune responses and may hold significance for other autoimmune conditions like diabetes and rheumatoid arthritis.
Researchers investigated the role of Btk in B cell development and found it essential for choosing which B cells launch an attack against invading bacteria. Additionally, Btk plays a crucial role in telling B cells not to react to autoantigens, preventing autoimmune diseases like rheumatoid arthritis and diabetes.
Researchers have identified a genetic susceptibility locus for ET, a debilitating disorder characterized by tremors in the arms, head, neck, and voice. The discovery paves the way for future research to identify the cause of ET and develop more effective treatments.
Researchers have discovered that saliva is a reliable source of genetic material for DNA screening, eliminating the need for blood samples and associated risks. This breakthrough could make genetic testing more accessible to populations previously outside the medical mainstream.